Complex Chromosomal Rearrangement Involving Chromosomes 10 and 11, Accompanied by Two Adjacent 11p14.1p13 and 11p13p12 Deletions, Identified in a Patient with WAGR Syndrome.

Three years ago, our patient, at that time a 16-month-old boy, was discovered to have bilateral kidney lesions with a giant tumor in the right kidney. Chemotherapy and bilateral nephron-sparing surgery (NSS) for Wilms tumor with nephroblastomatosis was carried out. The patient also had eye affection, including glaucoma, eye enlargement, megalocornea, severe corneal swelling and opacity, complete aniridia, and nystagmus. The diagnosis of WAGR syndrome was suspected. De novo complex chromosomal rearrangement with balanced translocation t(10,11)(p15;p13) and a pericentric inversion inv(11)(p13q12), accompanied by two adjacent 11p14.1p13 and 11p13p12 deletions, were identified. Deletions are raised through the complex molecular mechanism of two subsequent rearrangements affecting chromosomes 11 and 10. WAGR syndrome diagnosis was clinically and molecularly confirmed, highlighting the necessity of comprehensive genetic testing in patients with congenital aniridia and/or WAGR syndrome.

An uncommon presentation of WAGR syndrome with persistent fetal vasculature.

Aniridia is an autosomal dominant congenital malformation associated with mutations in the PAX6 gene. It can be associated with deletion in the contiguous WT1 gene, leading to WAGR syndrome, characterized by Wilm tumor, aniridia, genitourinary anomalies, and mental retardation. Persistent fetal vasculature is a developmental malformation caused by incomplete regression of hyaloid vasculature. Most cases of persistent fetal vasculature occur sporadically; however, some inherited forms are described. We report a case of genetically confirmed WAGR associated with congenital cataract and persistent fetal vasculature.

A novel missense variant expands the phenotype and genotype of PAX6-associated foveal hypoplasia accompanied by various manifestations of anterior segment dysgenesis.

BACKGROUND: According to previous reports, PAX6-associated foveal hypoplasia (FH) could usually be accompanied by various anterior segment anomalies including variable iris changes. This study aims to exhibit unusual phenotypes of a novel missense variant of PAX6 from a Chinese pedigree. METHODS: Ophthalmic examinations including slit-lamp biomicroscopy, gonioscopy, ophthalmic ultrasound, ultrasonic biomicroscopy, optical coherence tomography, wide-field fundus imaging, and visual field test were performed to evaluate the clinical manifestations. Whole-exome sequencing (WES) and bioinformatics analysis were conducted in eight members from this pedigree to identify the causative mutation. RESULTS: WES revealed a novel heterozygous substitution of PAX6 (NM_000280.5:c.157G > A, p.(Val53Met) (chr11:31823309 C > T, hg19)), which cosegregated with the phenotype of this pedigree. All the three patients (a pair of fraternal twins and their mother) exhibited bilateral FH and anterior segment dysgenesis (ASD) including microcornea, sclerocornea, obvious symmetrical corectopia, iris stromal dysplasia, goniodysgenesis, and abnormal distribution of fundus blood vessels. The girl of the fraternal twins also demonstrated bilateral temporal deviation of lenses and abnormal tissue membrane connecting anterior chamber angle and lens anterior capsule in the right eye. The mother additionally showed apparent cataract bilaterally and cupping of the optic disc in her left eye. CONCLUSION: A novel missense variant in PAX6 gene was detected in a Chinese pedigree demonstrating bilateral FH and ASD. It is really distinctive that the ASD involves almost all parts of the anterior segment, and bilateral symmetrical corectopia is the most perceptible sign. This study expands the phenotypic and genotypic spectrum of PAX6-associated ocular diseases, and facilitates the understanding of the crucial role that PAX6 plays in the development of the eye. Meanwhile, PAX6 could be considered as a candidate pathogenic gene of bilateral symmetrical corectopia.

Globe rupture with aphakia, aniridia, secondary glaucoma and late corneal decompensation: A multi-staged approach to management.

Severe blunt ocular trauma may result in immediate and delayed complications requiring appropriate management algorithms. We hereby report a case of globe rupture, aphakia, traumatic aniridia, and secondary glaucoma in a 33-year-old male following road traffic accident. He was treated initially by primary repair followed by novel combined approach of aniridia IOL with Ahmed glaucoma valve implantation. Delayed corneal decompensation required deferred penetrating keratoplasty. After a follow-up of 3.5 years after last surgery, patient maintains good functional vision with stable IOL, clear corneal graft and controlled intraocular pressure. A meticulously planned and staged management approach appears better suited in complex ocular trauma in such scenarios giving a good structural and functional outcome.

Isolated aniridia caused by a novel PAX6 heterozygous deletion mediated by multi-exon complex rearrangement.

PURPOSE: Mutations in PAX6 gene (chromosome 11p13) encoding a transcriptional regulator involved in oculogenesis mostly present with aniridia. Aniridia is not uncommon in the Philippines but only limited information is available as yet. The purpose of this study was to present a novel, deletion mediated by complex rearrangement in PAX6 gene causing an isolated aniridia in a Filipino girl. PATIENTS AND METHODS: The patient is an 8-year-old girl who came in due to leukocoria with associated nystagmus and esotropia. She presented with subnormal vision, nystagmus, aniridia, and cataractous lenses in both eyes. The family history reveals presence of the aniridia and cataract with the mother and a sibling. The patient underwent lens extraction without intraocular lens implantation bilaterally, where patient subsequently underwent intraocular lens implantation on her left eye. Systemic workup was performed including whole abdomen, renal ultrasound, blood chemistry, and urinalysis. Targeted cataract panel with WT1 and PAX6 genes revealed a novel, heterozygous PAX6-inherited mutation from the mother. This variant is a complex rearrangement in PAX6 involving partial deletions of exons 3-5, including the initiator codon. Deletions of PAX6 are part of a contiguous gene deletion syndrome - Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability syndrome - and therefore evaluation of the WT1 gene was necessary to rule out this life-threatening syndrome. CONCLUSION: This rare, complex rearrangement of multiple exons and deletions in PAX6 causing an isolated aniridia phenotype is probably the first reported case. The patient was managed by a multidisciplinary team and the guardians were counseled regarding the prognosis and complications.

[Rehabilitation of patients with posttraumatic aniridia and secondary glaucoma]. / Reabilitatsiya patsientov s posttravmaticheskoi aniridiei i vtorichnoi glaukomoi.

Secondary glaucoma is one of the main problems of rehabilitation of patients with traumatic damage of the iris. PURPOSE: This study analyzes the long-term results of rehabilitation of patients with posttraumatic aniridia and glaucoma. MATERIAL AND METHODS: The study included 310 patients (310 eyes) with posttraumatic aniridia who had artificial iris-lens diaphragm (ILD) MIOL-Raduzhka implanted in 2002-2022. Before ILD implantation, 61 patients (22.8%) had secondary glaucoma. Among them 35 patients (11.3%) underwent various modifications of glaucoma surgery. In 26 patients (8.6%), intraocular pressure (IOP) was compensated medically before ILD implantation. RESULTS: Until the third month after ILD implantation, there was a trend for IOP increase in some patients. Decompensation was noted in 8 (22.9%) out of 35 patients who had underwent glaucoma surgery. IOP decompensation was observed in 21 (80.8%) of 26 cases in patients with glaucoma compensated by drugs before ILD implantation. After ILD implantation, glaucoma appeared for the first time in 21 patients (6.8%) out of 310. In order to compensate IOP after ILD implantation, Ahmed valve implantation was performed most often - in 35 cases (70%) out of 50, deep sclerectomy - in 5 cases (10%), non-penetrating deep sclerectomy - in 4 cases (8%), micropulse transscleral laser cyclophotocoagulation (MP-TSCPC) - in 5 cases (10%), endoscopic cyclophotocoagulation (ECP) - in 1 case (2%). CONCLUSION: ILD implantation in patients with posttraumatic aniridia and secondary glaucoma should be performed with IOP compensated without hypotensive therapy and not earlier than 6-12 months after glaucoma surgery. The most optimal glaucoma surgery types in this group of patients are Ahmed valve implantation and MP-TSCPC.

Descemet Stripping Endothelial Keratoplasty for Congenital Aniridia: An Interesting and Challenging Story.

Congenital aniridia is a rare condition affecting a wide range of ocular structures, from the ocular surface to the retina. We present the case of a 59-year-old woman with PAX6- and WT1-negative congenital aniridia who developed aniridia-associated keratopathy and progressive endothelial dysfunction with corneal decompensation after cataract surgery. The patient underwent successful ultrathin Descemet stripping endothelial keratoplasty. Despite the challenges faced with an unstable iridolenticular diaphragm, we were pleasantly surprised to see improvement not only of corneal edema and endothelial function but also of the whole cornea, including anterior corneal anatomy and appearance. In conclusion, endothelial transplantation in a patient with aniridia resulted in improvement of all the corneal structures from the endothelium to the stroma, epithelium, and possibly even the ocular surface.

[National protocol for diagnosis and care of congenital aniridia: Summary for the attending physician]. / Protocole national de diagnostic et de soins (PNDS) de l'aniridie congénitale : synthèse pour le médecin traitant.

Congenital aniridia is a rare panocular disease defined by a national diagnostic and care protocol (PNDS) validated by the HAS. In most cases, it is due to an abnormality in the PAX6 gene, located at 11p13. Aniridia is a potentially blinding autosomal dominant disease with high penetrance. The prevalence varies from 1/40,000 births to 1/96,000 births. Approximately one third of cases are sporadic. Ocular involvement includes complete or partial absence of iris tissue, corneal opacification with neovascularization, glaucoma, cataract, foveal hypoplasia, optic disc hypoplasia and ptosis. These ocular disorders coexist to varying degrees and progress with age. Congenital aniridia manifests in the first months of life as nystagmus, visual impairment and photophobia. A syndromic form such as WAGR syndrome, WAGRO syndrome (due to the risk of renal Wilms tumor) or Gillespie syndrome (cerebellar ataxia) must be ruled out. Systemic associations may include diabetes, due to expression of the PAX6 gene in the pancreas, as well as other extraocular manifestations. Initial assessment is best carried out in a referral center specialized in rare ophthalmologic diseases, with annual follow-up. The management of progressive ocular involvement must be both proactive and responsive, with medical and surgical management. Visual impairment and photophobia result in disability, leading to difficulties in mobility, movement, communication, learning, fine motor skills, and autonomy, with consequences in personal, school, professional, socio-cultural and athletic life. Medico-socio-educational care involves a multidisciplinary team. Disability rehabilitation must be implemented to prevent and limit situations of handicap in activities of daily living, relying on the Commission for the Rights and Autonomy of People with Disabilities (CDAPH) within the Departmental House of People with Disabilities (MDPH). The general practitioner coordinates multidisciplinary medical and paramedical care.

Clinical outcomes and visual prognostic factors in congenital aniridia.

BACKGROUND: Evaluate outcomes and identify prognostic factors in congenital aniridia. METHODS: Retrospective interventional case series of patients with congenital aniridia treated between 2012-2020. Ocular examination and surgical details were collected. Surgical failure was defined as disease progression or need for additional surgery for same/related indication. Kaplan-Meier survival curves, Wilcoxon test, and univariate and multivariate linear regression analyses were performed. RESULTS: Ninety-four patients with congenital aniridia presented at median 19.0 years. Two-thirds of patients underwent ≥ 1intraocular surgery, with average of 1.7 ± 2.3 surgeries/eye. At final follow-up (median 4.0 years), 45% of eyes had undergone lensectomy. Aphakic eyes showed worse visual acuity (VA) than phakic or pseudophakic eyes. Glaucoma affected 52% of eyes, of which half required IOP-lowering surgery. Glaucoma drainage devices showed the highest success rate (71%) at 14.2 ± 15.4 years of follow-up. Keratopathy affected 65% of eyes and one-third underwent corneal surgery. Keratoprosthesis had the longest survival rates at 10-years (64% with 95% CI [32,84]). LogMAR VA at presentation and final follow-up were not statistically different. Half of patients were legally blind at final follow-up. Final VA was associated with presenting VA, glaucoma diagnosis, and cataract or keratopathy at presentation. Penetrating keratoplasty and keratoprosthesis implantation correlated with worse BCVA. CONCLUSIONS: Most aniridic patients in this large US-based cohort underwent at least 1 intraocular surgery. Cataract, glaucoma, and keratopathy were associated with worse VA and are important prognostic factors to consider when managing congenital aniridia.

Genetics and epidemiology of aniridia: Updated guidelines for genetic study.

Aniridia is a panocular disease characterized by iris hypoplasia, accompanied by other ocular manifestations, with a high clinical variability and overlapping with different abnormalities of the anterior and posterior segment. This review focuses on the genetic features of this autosomal dominant pathology, which is caused by the haploinsufficiency of the PAX6 gene. Mutations causing premature stop codons are the most frequent among the wider mutational spectrum of PAX6, with more than 600 different mutations identified so far. Recent advances in next-generation sequencing (NGS) have increased the diagnostic yield in aniridia and contributed to elucidate new etiopathogenic mechanisms leading to PAX6 haploinsufficiency. Here, we also update good practices and recommendations to improve genetic testing and clinical management of aniridia using more cost-effective NGS analysis. Those new approaches also allow studying simultaneously both structural variants and point-mutations in PAX6 as well as other genes for differential diagnosis, simultaneously. Some patients with atypical phenotypes might present mutations in FOXC1 and PITX2, both genes causing a wide spectrum of anterior segment dysgenesis, or in ITPR1, which is responsible for a distinctive form of circumpupillary iris aplasia present in Gillespie syndrome, or other mutations in minor genes. Since aniridia can also associate extraocular anomalies, as it occurs in carriers of PAX6 and WT1 microdeletions leading to WAGR syndrome, genetic studies are crucial to assure a correct diagnosis and clinical management, besides allowing prenatal and preimplantational genetic testing in families.

Ophthalmological evaluation and integrated intervention in a family with congenital aniridia in Alagoas, Brazil / Avaliação oftalmológica e intervenção integrada em família com aniridia congênita em Alagoas, Brasil

Abstract Objective: We aimed to describe the clinical and phenotypic manifestations as well as the visual prognosis of a family with CA in Northeastern Brazil. Methods: This was a cross-sectional study involving 31 individuals (56 eyes) from the same family presenting CA phenotypes. The study population resided in the municipality of Água Branca, in the backlands of the state of Alagoas, Northeastern Brazil. The clinical and phenotypic variables were analyzed. For the analysis, descriptive statistics (absolute and relative frequency and measures of central tendency and dispersion) and inferential statistics (Shapiro-Wilk and Student's t tests) were used, with 95% confidence intervals and significance set at 5%. Results: Of the 31 individuals, 18 (58.1%) were male, with a mean age of 27.45 ± 17.49 years, with no difference between sexes. Of the 56 eyes evaluated, 26 and 30 were right and left eyes, respectively; 61.3% (n = 19) individuals had complete bilateral aniridia and 25.8% (n = 8) reported a total loss of light perception in both the eyes. The most prevalent ocular abnormalities were nystagmus (n = 27; 87.09%), cataract (n = 20; 64.5%), strabismus (n = 14; 45.2%), corneal changes such as opacities and/or vascularization (n = 13; 41.93%), and ectopia lentis (n = 6; 19.4%). Further, 13 individuals underwent retinal optical coherence tomography, six man and seven women aged 9-48 (mean, 30.15 ± 15.9) years. All patients presented absence of foveal depression as well as reduced macular thickness and visual acuity. Nine subjects underwent phacoemulsification. Conclusion: The study showed wide phenotypic variation among the studied individuals, with poor visual prognosis. The study highlights the need to establish comprehensive care mechanisms for families with the disease.

Resumo Objetivo: Descrever manifestações clínicas e fenotípicas e o prognóstico visual de uma família com aniridia congênita (AC). Métodos: Trata-se de estudo transversal envolvendo 31 indivíduos (56 olhos), de uma mesma família com fenótipo de AC residindo no município de Água Branca, no sertão do estado de Alagoas, região nordeste do Brasil. Foram analisadas variáveis clínicas e fenotípicas. Para a análise, foi utilizada a estatística descritiva (frequência absoluta e relativa e medidas de tendência central e de dispersão) e inferencial (testes de Shapiro-Wilk e t Student). Considerou-se o intervalo de confiança de 95% e a significância de 5%. Resultados: Dos 31 indivíduos, 18 (58,1%) eram do sexo masculino, com média de idade de 27,45±17,49, sem diferença entre os sexos. Dos 56 olhos avaliados, 26 eram olhos direitos e 30 olhos esquerdos: 61,3% (n=19) apresentavam aniridia bilateral total; 25,8% (n=8) referiam perda total de percepção da luz em ambos os olhos. As anormalidades oculares mais prevalentes foram o nistagmo (n=27; 87,09%), catarata (n=20; 64,5%), estrabismo 14 (45,2%), alterações opacidades ou vascularização corneanas (n=13; 41,93%) e ectopia lentis (n=6; 19,4%). Os 13 indivíduos submetidos à tomografia de coerência óptica (OCT) retiniana apresentavam perda da depressão foveal, redução da espessura macular e redução da acuidade visual. Nove indivíduos foram submetidos a cirurgia de facoemulsificação. Conclusão: O estudo mostrou ampla variação fenotípica entre os indivíduos estudados, com pobre prognóstico visual. O estudo destaca a necessidade de estabelecer mecanismos de cuidado integral para as famílias com a doença.

A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region.

BACKGROUND: Because of the significant occurrence of "WAGR-region" deletions among de novo mutations detected in congenital aniridia, DNA diagnosis is critical for all sporadic cases of aniridia due to its help in making an early diagnosis of WAGR syndrome. Standard cytogenetic karyotype study is a necessary step of molecular diagnostics in patients with deletions and in the patients' parents as it reveals complex chromosomal rearrangements and the risk of having another affected child, as well as to provide prenatal and/or preimplantation diagnostics. CASE PRESENTATION: DNA samples were obtained from the proband (a 2-year-old boy) and his two healthy parents. Molecular analysis revealed a 977.065 kb deletion that removed loci of the ELP4, PAX6, and RCN1 genes but did not affect the coding sequence of the WT1 gene. The deletion occurred de novo on the paternal allele. The patient had normal karyotype 46,XY and a de novo pericentric inversion of chromosome 11, inv(11)(p13q14). CONCLUSIONS: We confirmed the diagnosis of congenital aniridia at the molecular level. For the patient, the risk of developing Wilms' tumor is similar to that in the general population. The recurrence risk for sibs in the family is low, but considering the possibility of gonadal mosaicism, it is higher than in the general population.

WAGRO syndrome: a rare genetic condition associated with aniridia and additional ophthalmologic abnormalities / Síndrome WAGRO: uma condição genética rara associada à aniridia e a anormalidades oftalmológicas adicionais

ABSTRACT Aniridia is a congenital eye disorder with a variable degree of hypoplasia or absence of iris tissue. It is caused by loss of function of the PAX6 gene and may be an isolated ocular abnormality or part of a syndrome. WAGRO refers to a rare genetic condition leading to Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity and is caused by a deletion of the short arm of chromosome 11 (11p), where the PAX6 gene is located. Here, we report on an 8-year-old boy with aniridia, polar cataract, and lens subluxation along with neuropsychomotor and speech delays. Karyotype evaluation showed an interstitial deletion including region 11p13-p14, confirming the diagnosis of WAGRO syndrome. In cases of aniridia, a diagnosis of WAGRO syndrome should be considered.

RESUMO A aniridia é uma doença ocular congênita com grau variável de hipoplasia ou ausência do tecido da íris. É causada pela perda de função do gene PAX6 e pode ser uma anormalidade ocular isolada ou parte de uma síndrome. WAGRO refere-se a uma condição genética rara que leva ao tumor de Wilms, aniridia, anomalias geniturinárias, déficit intelectual e obesidade e é causada por uma deleção do braço curto do cromossomo 11 (11p), onde o gene PAX6 está localizado. Aqui, nós relatamos um menino de 8 anos de idade com aniridia, catarata polar e subluxação do cristalino, além de retardo neuropsicomotor e de fala. A avaliação cariotípica revelou uma deleção intersticial envolvendo a região 11p13-p14, confirmando o diagnóstico da síndrome WAGRO. Em casos de aniridia, um diagnóstico de síndrome de WAGRO deve ser considerado.

WAGRO syndrome: a rare genetic condition associated with aniridia and additional ophthalmologic abnormalities.

Aniridia is a congenital eye disorder with a variable degree of hypoplasia or absence of iris tissue. It is caused by loss of function of the PAX6 gene and may be an isolated ocular abnormality or part of a syndrome. WAGRO refers to a rare genetic condition leading to Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity and is caused by a deletion of the short arm of chromosome 11 (11p), where the PAX6 gene is located. Here, we report on an 8-year-old boy with aniridia, polar cataract, and lens subluxation along with neuropsychomotor and speech delays. Karyotype evaluation showed an interstitial deletion including region 11p13-p14, confirming the diagnosis of WAGRO syndrome. In cases of aniridia, a diagnosis of WAGRO syndrome should be considered.

[Congenital aniridia in children]. / Aniridie congénitale de l'enfant.

Congenital aniridia in children. Congenital aniridia is a genetic rare disease that affects the entire eyeball (pan-ocular disease). The disease is characterized by partial or complete absence of iris. Clinical signs in children are essentially photophobia and nystagmus. The prevalence was reported range from 1:40,000 births to 1:100,000 but may be underestimated. It can also be associated with other systemic disorders then constituting a syndromic aniridia. These different syndromes are to be detected rapidly at risk of nephroblastoma in WAGR syndrome (Wilms' tumor, aniridia, genitourinary anomalies, mental retardation) or cerebellar ataxia in Gillespie syndrome. The diagnosis is mostly performed in infants. Congenital aniridia combines several types of ocular disorders, such as aniridia, foveal hypoplasia, glaucoma, cataract, and progressive corneal opacification. Preventive therapies should be instituted and all ocular aspects of the disease should be treated. This disease often leads to major visual impairment or even long-term blindness and requires UV protection optical correction. Clinical research is active with corneal stem cells and gene therapy.

Aniridie congénitale de l'enfant. L'aniridie congénitale est une maladie rare d'origine génétique qui touche le globe oculaire dans sa totalité (maladie pan-oculaire). Elle est caractérisée en partie par l'absence partielle ou complète de l'iris. L'enfant a essentiellement une photophobie et un nystagmus. La prévalence varie de 1/40 000 à 1/100 000 naissances mais elle est peut-être sous-estimée. Elle peut aussi être associée à d'autres atteintes systémiques constituant alors une aniridie syndromique. Ces différents syndromes sont à dépister rapidement du fait de risque de néphroblastome dans le syndrome WAGR (tumeur de Wilms, aniridie, anomalies génito-urinaires, retard mental) ou d'ataxie cérébelleuse dans le syndrome de Gillespie. Le diagnostic est majoritairement porté chez le nourrisson. L'aniridie congénitale associe plusieurs types d'atteintes oculaires, telles qu'une aniridie, une hypoplasie fovéale, un glaucome, une cataracte, une atteinte progressive de la transparence cornéenne. Des traitements préventifs doivent être institués et tous les aspects oculaires de la maladie doivent être pris en charge. Cette affection entraîne souvent un handicap visuel majeur, voire une cécité à long terme et nécessite une protection oculaire par verres teintés. La recherche clinique est active sur les cellules souches cornéennes et la thérapie génique.

Iris reconstruction using artificial iris prosthesis for management of aniridia.

PURPOSE: To discuss the limitations and benefits of the BrightOcular prosthetic artificial iris device in management of aniridia associated with aphakia or cataract. METHODS: This is a retrospective study including 5 eyes of 4 patients who underwent implantation of the BrightOcular iris prosthesis (Stellar Devices) for total or partial aniridia. The cases included 2 eyes of 1 patient with congenital aniridia associated with congenital cataract and 3 eyes with traumatic aniridia: 1 with subluxated cataractous lens and 2 with aphakia. In all cases, the iris prosthesis was implanted after a 3-piece acrylic intraocular lens was implanted. We evaluated the clinical course with a minimum follow-up period of 6 months, the intraoperative and postoperative complications, and the cosmetic satisfaction of patients. RESULTS: All patients had improved uncorrected distance visual acuity and best-corrected distance visual acuity. All patients had a transient corneal edema that resolved within the first postoperative week. Only the patient with congenital aniridia had a permanent increase in intraocular pressure and developed a band keratopathy throughout a 2-year follow-up period. The prosthesis was well-centered in all eyes except for one case that required scleral suture fixation after 3 months. All patients had a satisfactory cosmetic appearance. CONCLUSIONS: BrightOcular iris prosthesis is a safe and useful tool to correct aniridia associated with pseudophakia or aphakia. Being foldable, it is easy to be implanted through a small incision and placed in the ciliary sulcus without sutures when properly sized. Cosmetic results are satisfactory. Sizing methods should be improved.

Congenital aniridia with cataract: case series.

BACKGROUND: This study evaluates patients with congenital aniridia and cataract who underwent phacoemulsification, capsular tension ring placement, and foldable intraocular lens implantation. METHODS: In this prospective case series, 10 patients (17 eyes) underwent cataract surgery via a 3.2 mm clear corneal incision. A continuous circular capsulorhexis with <6 mm diameter was employed. A capsular tension ring and HOYA yellow foldable posterior chamber intraocular lens was implanted. All patients wore color contact lenses postoperatively. Paired t test was used to compare visual acuity, intraocular pressure, and corneal endothelial changes before and after surgery. RESULTS: A single surgeon performed all surgeries. The best-corrected visual acuity improved from value 1.03 ± 0.27LogMAR preoperatively to value 0.78 ± 0.26LogMAR postoperatively (p = 0.000). The photophobic symptoms improved significantly after surgery. The mean corneal endothelial cell density before and after surgery was 3280 ± 473 cells/mm2 and 2669 ± 850 cells/mm2, respectively (p = 0.006). None of the patients developed corneal endothelial decompensation or secondary glaucoma after surgery. CONCLUSIONS: Treatment of congenital aniridia and coexistent cataract by phacoemulsification, posterior chamber foldable lens implantation, capsular tension ring placement was safe and effective. Use of colored contact lenses in the postoperative period can reduce photophobic symptoms in this group of patients. TRIAL REGISTRATION: ChiCTR-OOC-17011638 (retrospectively registered at 12,June,2017).

PAX6 aniridia syndrome: clinics, genetics, and therapeutics.

PURPOSE OF REVIEW: Aniridia is a rare and panocular disorder affecting most of the ocular structures which may have significant impact on vision. The purpose of this review is to describe the clinical features, genetics, and therapeutic options for this disease and to provide an update of current knowledge and latest research findings. RECENT FINDINGS: Aside from the ocular features, a variety of associated systemic abnormalities, including hormonal, metabolic, gastrointestinal, genitourinary, and neurologic pathologies have been reported in children with aniridia. Although mutations in PAX6 are a major cause of aniridia, genetic defects in nearby genes, such as TRIM44 or ELP4, have also been reported to cause aniridia. Recent improvement in genetic testing technique will help more rapid and precise diagnosis for aniridia. A promising therapeutic approach called nonsense suppression therapy has been introduced and successfully used in an animal model. SUMMARY: Aniridia is a challenging disease. The progressive nature of this condition and its potential complications require continuous and life-long ophthalmologic care. Genetic diagnosis for aniridia is important for establishing definitive molecular characterization as well as identifying individuals at high risk for Wilms tumor. Recent advancement in understanding the genetic pathogenesis of this disease offers promise for the approaches to treatment.